NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) AND not provided

Germline classification:: Likely benign; other (2 submissions)
Last evaluated:: Aug 7, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000352637.14

Allele description [Variation Report for NM_000769.4(CYP2C19):c.681G>A (p.Pro227=)]

NM_000769.4(CYP2C19):c.681G>A (p.Pro227=)

Gene:

CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

Preferred name:

NM_000769.4(CYP2C19):c.681G>A (p.Pro227=)

Other names:

CYP2C19m1:CYP2C19*2

HGVS:

NC_000010.11:g.94781859G>A
NG_008384.3:g.24179G>A
NM_000769.4:c.681G>AMANE SELECT
NP_000760.1:p.Pro227=
NC_000010.10:g.96541616G>A
NM_000769.1:c.681G>A
NM_000769.2:c.681G>A

Links:

PharmGKB Clinical Annotation: 655384520; PharmGKB Clinical Annotation: 982038133; PharmGKB Clinical Annotation: 982038252; PharmGKB Clinical Annotation: 982040587; OMIM: 124020.0001; dbSNP: rs4244285

NCBI 1000 Genomes Browser:

rs4244285

Molecular consequence:

NM_000769.4:c.681G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

cryptic splice acceptor activation [PubMedVariation Ontology: 0375]
protein loss of function [Variation Ontology: 0043]

Observations:

275

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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ubiquinol-cytochrome-c reductase complex assembly factor 2 isoform X1 [Myotis my...
ubiquinol-cytochrome-c reductase complex assembly factor 2 isoform X1 [Myotis myotis]
gi|1911191318|ref|XP_036212563.1|

Protein
Microbe sample from Acinetobacter lwoffii
Microbe sample from Acinetobacter lwoffii

biosample
NADH dehydrogenase subunit 6, partial (mitochondrion) [Tursiops aduncus]
NADH dehydrogenase subunit 6, partial (mitochondrion) [Tursiops aduncus]
gi|1367973868|gb|AVP32559.1|

Protein
Hepatitis C virus isolate 94_32-349 envelope glycoprotein 2 gene, partial cds
Hepatitis C virus isolate 94_32-349 envelope glycoprotein 2 gene, partial cds
gi|145693758|gb|EF204751.1|

Nucleotide
Hepatitis C virus isolate 97_23-340 envelope glycoprotein 2 gene, partial cds
Hepatitis C virus isolate 97_23-340 envelope glycoprotein 2 gene, partial cds
gi|145693752|gb|EF204748.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000331333	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	other (Aug 7, 2018)	germline	clinical testing	Citation Link,
SCV005221959	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000331333

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

other
(Aug 7, 2018)

germline

clinical testing

Citation Link,

SCV005221959

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	275	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	not provided

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331333.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	275	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		275	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005221959.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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